Canonical Allele Identifier: CA2692221390

Gene: POMT1

Linked Data

• gnomAD v4: 9-131519031-GTTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131519033_131519035del , CM000671.2:g.131519033_131519035del	GRCh38
NC_000009.11:g.134394420_134394422del , CM000671.1:g.134394420_134394422del	GRCh37
NC_000009.10:g.133384241_133384243del	NCBI36
NG_008896.1:g.21132_21134del
NG_008896.2:g.21132_21134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1324+76_1324+78del	ENSP00000343034.7:n.1324+76_1324+78del
ENST00000404875.7:n.2026+76_2026+78del
ENST00000423007.6:c.1543+76_1543+78del	ENSP00000404119.2:n.1543+76_1543+78del
ENST00000677295.2:c.*1830+76_*1830+78del	ENSP00000504346.2:n.*1830+76_*1830+78del
ENST00000678264.2:c.*1669+76_*1669+78del	ENSP00000503157.2:n.*1669+76_*1669+78del
ENST00000682070.1:n.1951+76_1951+78del
ENST00000682813.1:n.1890+76_1890+78del
ENST00000683392.1:n.4233+76_4233+78del
ENST00000683712.1:n.1891+76_1891+78del
ENST00000683900.1:n.3386+76_3386+78del
ENST00000684062.1:n.2152+76_2152+78del
ENST00000684579.1:n.3332+76_3332+78del
ENST00000684679.1:n.713+76_713+78del
ENST00000341012.12:c.1324+76_1324+78del	ENSP00000343034.7:n.1324+76_1324+78del
ENST00000372220.5:c.355+76_355+78del	ENSP00000361294.5:n.355+76_355+78del
ENST00000372228.9:c.1552+76_1552+78del	ENSP00000361302.3:n.1552+76_1552+78del
ENST00000402686.8:c.1486+76_1486+78del MANE Select	ENSP00000385797.4:n.1486+76_1486+78del
ENST00000676640.1:c.1486+76_1486+78del	ENSP00000503281.1:n.1486+76_1486+78del
ENST00000676803.1:c.661+76_661+78del	ENSP00000503093.1:n.661+76_661+78del
ENST00000676835.1:c.*701+76_*701+78del	ENSP00000502911.1:n.*701+76_*701+78del
ENST00000677029.1:c.1030+76_1030+78del	ENSP00000502936.1:n.1030+76_1030+78del
ENST00000677099.1:c.*1196+76_*1196+78del	ENSP00000504553.1:n.*1196+76_*1196+78del
ENST00000677216.1:c.1135+76_1135+78del	ENSP00000503772.1:n.1135+76_1135+78del
ENST00000677221.1:n.511+76_511+78del
ENST00000677295.1:c.*863+76_*863+78del	ENSP00000504346.1:n.*863+76_*863+78del
ENST00000677444.1:c.1431+76_1431+78del
ENST00000677586.1:n.967+76_967+78del
ENST00000677626.1:c.1135+76_1135+78del	ENSP00000503552.1:n.1135+76_1135+78del
ENST00000677677.1:n.1446+76_1446+78del
ENST00000677853.1:c.*494+76_*494+78del	ENSP00000503488.1:n.*494+76_*494+78del
ENST00000678202.1:n.645+76_645+78del
ENST00000678264.1:c.*863+76_*863+78del	ENSP00000503157.1:n.*863+76_*863+78del
ENST00000678303.1:c.1396+76_1396+78del	ENSP00000503696.1:n.1396+76_1396+78del
ENST00000678366.1:c.*1735+76_*1735+78del	ENSP00000504353.1:n.*1735+76_*1735+78del
ENST00000678546.1:c.*1431+76_*1431+78del	ENSP00000503062.1:n.*1431+76_*1431+78del
ENST00000678548.1:c.*1558+76_*1558+78del	ENSP00000503934.1:n.*1558+76_*1558+78del
ENST00000678626.1:n.1322+76_1322+78del
ENST00000678733.1:c.567+76_567+78del
ENST00000678739.1:c.*1812+76_*1812+78del	ENSP00000503806.1:n.*1812+76_*1812+78del
ENST00000678833.1:c.*934-51_*934-49del	ENSP00000503893.1:n.*934-51_*934-49del
ENST00000679023.1:c.1324+76_1324+78del	ENSP00000503718.1:n.1324+76_1324+78del
ENST00000679076.1:c.1105+76_1105+78del
ENST00000679111.1:c.*242+76_*242+78del	ENSP00000504257.1:n.*242+76_*242+78del
ENST00000679189.1:c.1135+76_1135+78del	ENSP00000503356.1:n.1135+76_1135+78del
ENST00000341012.11:c.1324+76_1324+78del	ENSP00000343034.7:n.1324+76_1324+78del
ENST00000372220.4:c.349+76_349+78del	ENSP00000361294.4:n.349+76_349+78del
ENST00000372228.7:c.1552+76_1552+78del	ENSP00000361302.3:n.1552+76_1552+78del
ENST00000402686.7:c.1486+76_1486+78del	ENSP00000385797.3:n.1486+76_1486+78del
ENST00000404875.6:c.1135+76_1135+78del	ENSP00000384531.2:n.1135+76_1135+78del
ENST00000423007.5:c.1486+76_1486+78del	ENSP00000404119.1:n.1486+76_1486+78del
ENST00000467848.1:n.190+76_190+78del
ENST00000485278.5:n.2041+76_2041+78del
NM_001077365.1:c.1486+76_1486+78del	NP_001070833.1:n.1486+76_1486+78del
NM_001077366.1:c.1324+76_1324+78del	NP_001070834.1:n.1324+76_1324+78del
NM_001136113.1:c.1486+76_1486+78del	NP_001129585.1:n.1486+76_1486+78del
NM_001136114.1:c.1135+76_1135+78del	NP_001129586.1:n.1135+76_1135+78del
NM_007171.3:c.1552+76_1552+78del	NP_009102.3:n.1552+76_1552+78del
XM_005272156.1:c.1552+76_1552+78del	XP_005272213.1:n.1552+76_1552+78del
XM_005272158.1:c.1390+76_1390+78del	XP_005272215.1:n.1390+76_1390+78del
XM_005272159.1:c.1201+76_1201+78del	XP_005272216.1:n.1201+76_1201+78del
XM_005272162.1:c.355+76_355+78del	XP_005272219.1:n.355+76_355+78del
XM_006716932.1:c.1201+76_1201+78del	XP_006716995.1:n.1201+76_1201+78del
XM_011518140.1:c.1405+76_1405+78del	XP_011516442.1:n.1405+76_1405+78del
XM_011518141.1:c.1339+76_1339+78del	XP_011516443.1:n.1339+76_1339+78del
XM_011518142.1:c.1243+76_1243+78del	XP_011516444.1:n.1243+76_1243+78del
XM_011518143.1:c.1237+76_1237+78del	XP_011516445.1:n.1237+76_1237+78del
XM_011518145.1:c.1096+76_1096+78del	XP_011516447.1:n.1096+76_1096+78del
XM_011518147.1:c.424+76_424+78del	XP_011516449.1:n.424+76_424+78del
XR_929703.1:n.1728+76_1728+78del
NM_001353193.1:c.1552+76_1552+78del	NP_001340122.1:n.1552+76_1552+78del
NM_001353194.1:c.1324+76_1324+78del	NP_001340123.1:n.1324+76_1324+78del
NM_001353195.1:c.1135+76_1135+78del	NP_001340124.1:n.1135+76_1135+78del
NM_001353196.1:c.1396+76_1396+78del	NP_001340125.1:n.1396+76_1396+78del
NM_001353197.1:c.1390+76_1390+78del	NP_001340126.1:n.1390+76_1390+78del
NM_001353198.1:c.1390+76_1390+78del	NP_001340127.1:n.1390+76_1390+78del
NM_001353199.1:c.1201+76_1201+78del	NP_001340128.1:n.1201+76_1201+78del
NM_001353200.1:c.1030+76_1030+78del	NP_001340129.1:n.1030+76_1030+78del
NR_148391.1:n.1536+76_1536+78del
NR_148392.1:n.1754+76_1754+78del
NR_148393.1:n.1675+76_1675+78del
NR_148394.1:n.1429+76_1429+78del
NR_148395.1:n.1827+76_1827+78del
NR_148396.1:n.1461+76_1461+78del
NR_148397.1:n.1586+76_1586+78del
NR_148398.1:n.1541+76_1541+78del
NR_148399.1:n.2067+76_2067+78del
NR_148400.1:n.1666+76_1666+78del
XM_005272162.3:c.355+76_355+78del	XP_005272219.1:n.355+76_355+78del
XM_006716932.2:c.1201+76_1201+78del	XP_006716995.1:n.1201+76_1201+78del
XM_011518140.2:c.1405+76_1405+78del	XP_011516442.1:n.1405+76_1405+78del
XM_011518141.2:c.1339+76_1339+78del	XP_011516443.1:n.1339+76_1339+78del
XM_011518142.2:c.1243+76_1243+78del	XP_011516444.1:n.1243+76_1243+78del
XM_011518143.2:c.1237+76_1237+78del	XP_011516445.1:n.1237+76_1237+78del
XM_011518145.2:c.1096+76_1096+78del	XP_011516447.1:n.1096+76_1096+78del
XM_017014205.2:c.355+76_355+78del	XP_016869694.1:n.355+76_355+78del
XM_024447380.1:c.355+76_355+78del	XP_024303148.1:n.355+76_355+78del
XM_024447381.1:c.661+76_661+78del	XP_024303149.1:n.661+76_661+78del
XM_024447382.1:c.355+76_355+78del	XP_024303150.1:n.355+76_355+78del
XR_001746160.2:n.1656+76_1656+78del
XR_001746162.2:n.1861+76_1861+78del
XR_001746164.1:n.1578+76_1578+78del
XR_001746166.2:n.1873+76_1873+78del
NM_001077365.2:c.1486+76_1486+78del MANE Select	NP_001070833.1:n.1486+76_1486+78del
NM_001077366.2:c.1324+76_1324+78del	NP_001070834.1:n.1324+76_1324+78del
NM_001136113.2:c.1486+76_1486+78del	NP_001129585.1:n.1486+76_1486+78del
NM_001136114.2:c.1135+76_1135+78del	NP_001129586.1:n.1135+76_1135+78del
NM_001353193.2:c.1552+76_1552+78del	NP_001340122.2:n.1552+76_1552+78del
NM_001353194.2:c.1324+76_1324+78del	NP_001340123.1:n.1324+76_1324+78del
NM_001353195.2:c.1135+76_1135+78del	NP_001340124.1:n.1135+76_1135+78del
NM_001353196.2:c.1396+76_1396+78del	NP_001340125.1:n.1396+76_1396+78del
NM_001353197.2:c.1390+76_1390+78del	NP_001340126.2:n.1390+76_1390+78del
NM_001353198.2:c.1390+76_1390+78del	NP_001340127.2:n.1390+76_1390+78del
NM_001353199.2:c.1201+76_1201+78del	NP_001340128.2:n.1201+76_1201+78del
NM_001353200.2:c.1030+76_1030+78del	NP_001340129.1:n.1030+76_1030+78del
NM_001374689.1:c.1474+76_1474+78del	NP_001361618.1:n.1474+76_1474+78del
NM_001374690.1:c.1365+496_1365+498del	NP_001361619.1:n.1365+496_1365+498del
NM_001374691.1:c.1135+76_1135+78del	NP_001361620.1:n.1135+76_1135+78del
NM_001374692.1:c.1135+76_1135+78del	NP_001361621.1:n.1135+76_1135+78del
NM_001374693.1:c.1135+76_1135+78del	NP_001361622.1:n.1135+76_1135+78del
NM_001374695.1:c.1096+76_1096+78del	NP_001361624.1:n.1096+76_1096+78del
NM_007171.4:c.1552+76_1552+78del	NP_009102.4:n.1552+76_1552+78del
NR_148391.2:n.1520+76_1520+78del
NR_148392.2:n.1738+76_1738+78del
NR_148393.2:n.1659+76_1659+78del
NR_148394.2:n.1413+76_1413+78del
NR_148395.2:n.1811+76_1811+78del
NR_148396.2:n.1445+76_1445+78del
NR_148397.2:n.1570+76_1570+78del
NR_148398.2:n.1525+76_1525+78del
NR_148399.2:n.2051+76_2051+78del
NR_148400.2:n.1650+76_1650+78del